An observational study in Autism Spectrum Disorder, sponsored by Institut National de la Santé Et de la Recherche Médicale, France. Recruiting at 6 sites in France. Open to participants aged 24 Months to 70 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2025-12-23.
Sponsored by Institut National de la Santé Et de la Recherche Médicale, France · Observational
The main objective of the study is to define, for Autism Spectrum Disorder, the extent of genetic variation in synaptic pathways that may be targeted for therapeutic development. For this purpose the investigators will take advantage of large, well-characterized cohorts of patients with Autism Spectrum Disorder for genetic screenings. Targeted sequencing of selected synaptic genes, previously associated with Autism Spectrum Disorder, will be carried out in these cohorts with deep coverage of coding regions and a strong focus on previously untested regulatory regions. Genomic data from Copy Number Variant, whole genome sequencing and exome sequencing, available for some of these patients, will be integrated in the overall analysis. The investigators will strongly emphasize the establishment of comprehensive genotype/phenotype correlations.
Aim 1: To identify genetic variants in selected synaptic genes, by targeted sequencing with deep coverage of coding regions and a strong focus on previously untested regulatory regions in Autism Spectrum Disorder
Aim 2: To define the range of clinical phenotypes caused by mutations in synaptic genes by establishing detailed genotype/phenotype correlations and analyzing segregation in families with multiple individuals affected by Autism Spectrum Disorder, Autism Spectrum Disorder traits or other neuropsychiatric disorders
Aim 3: To identify the neuronal phenotypes caused by deleterious synaptic mutations for further translational studies
1,030 studies on the registry are indexed under Autistic Disorder; 266 are open to participants now.
This study's planned enrollment of 3,800 is above the median of 101 across 189 observational studies indexed under Autistic Disorder.
Browse Autistic Disorder studies →Institut National de la Santé Et de la Recherche Médicale, France is the lead sponsor of 378 studies on the registry; 81 are open to participants now.
Compared within Autistic Disorder, this study's primary condition as ClinicalTrials.gg classifies it; the registry's first condition term is Autism Spectrum Disorder. The counts are of registry records indexed under each term, refreshed daily. How we classify →
For all patients included in the study
Inclusion Criteria---------------------------------------------------------------------------------------------------
Probands with Autism Spectrum Disorder
Controls without ASD
Relatives of the probands with ASD or of controls without ASD
Exclusion Criteria --------------------------------------------------------------------------------------------------
Probands with Autism Spectrum Disorder
Severe Intelectual Deficiency (IQ,35 or developmental age \<18 months)
●. Personal psychiatric history (schizophrenia, bipolar disorder, substance use disorder (except tobacco), recurrent depression disorder, severe instable anxiety disorder)
Relatives of the probands with ASD, of the controls or the controls:
● Medical condition (psychiatric or somatic) not compatible with the inclusion
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
The American Psychiatric Association’s manual of mental health diagnoses. DSM-5 (2013, revised as DSM-5-TR in 2022) replaced DSM-IV, and some studies still name the older edition. “Meets DSM criteria for …” means diagnosed by that edition’s diagnostic criteria, usually by a clinician in an interview.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
DSM diagnostic criteria
The American Psychiatric Association’s manual of mental health diagnoses. DSM-5 (2013, revised as DSM-5-TR in 2022) replaced DSM-IV, and some studies still name the older edition. “Meets DSM criteria for …” means diagnosed by that edition’s diagnostic criteria, usually by a clinician in an interview.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Probands with Autism Spectrum Disorder, (N=700), Diagnosis of ASD according to DSM-V criteria For all patients included in the study, core assessment carried out by either collaborating partners consists of diagnosis using the Autism Diagnostic Interview-Revised (ADI-R) criteria for autism and Autism Diagnostic Observation Schedule (ADOS-G) criteria for autism or Autism Spectrum Disorders. Patients with profound intellectual disability or with a known medical cause of autism, such as neurocutaneous syndromes, Fragile X, metabolic disorders, extreme prematurity, congenital rubella and other prenatal or postnatal neurological infections or gross dysmorphology, will be excluded.
Genetic: DNA from subjects will be stored in the biobank of our study.
Controls without Austim Spectrum Disorder, aged 6 to 40, N=2100 (300 adultes, 300 children) Healthy individuals with or without idiopathic surgical or urological conditions (e.g. orthopaedic conditions, hernia repairs, renal malformations, pre- or post-circumcision, phimosis, balanitis, scoliosis, congenital hip dislocation, adenoid or tonsil removal, dental procedures such as wisdom tooth extraction, cosmetic procedures such as removal of skin tags or cleft lip repairs, non-head injuries such as fractures, drainage of subungual or perichondrial haematomata).
Genetic: DNA from subjects will be stored in the biobank of our study.
Relatives of probands with Autism Spectrum Disorder (N=1200 parents, N=600 siblings, N=300 other relatives) * Without Autism Spectrum Disorder diagnosis according to DSM-V, * With Autism Spectrum Disorder diagnosis according to DSM-V, and using the Autism Diagnostic Interview-Revised (ADI-R) criteria for autism and Autism Diagnostic Observation Schedule (ADOS-G) criteria for autism or Autism Spectrum Disorders
Genetic: DNA from subjects will be stored in the biobank of our study.
Relatives of controls without Autism Spectrum Disorder, N=400 first degree relatives
Genetic: DNA from subjects will be stored in the biobank of our study.
Diagnostic Interview-Revised (ADI-R) criteria for autism and Autism Diagnostic Observation Schedule (ADOS-G) criteria for autism or Autism Spectrum Disorders.
Also known as: diagnostic test
Prevalence of synaptic gene deleterious mutations in patients with Autism Spectrum Disorder
Prevalence of synaptic gene deleterious mutations in patients with Autism Spectrum Disorder
Time frame: up to 12 months after completion of the inclusion and molecular explorations
Prevalence of the deleterious mutations in the major biological pathways in Autism Spectrum Disorder
The deleterious mutations that the investigators will identify in genes related to Autism Spectrum Disorders will help to have a comprehensive framework of biological pathways involved in Autism Spectrum Disorder
Time frame: up to 12 months after completion of the inclusion and molecular explorations
Plan to share: No
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Institut National de la Santé Et de la Recherche Médicale, France →